Genomics in newborn screening

Journal of Pediatrics

Volumn 164, Issue 1, 2014, Pages 14-19

  Landau, Yuval E ^a,c   Lichter Konecki, Uta ^b   Levy, Harvey L ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ACIDEMIA; ARTICLE; BIOTINIDASE DEFICIENCY; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; DIFFERENTIAL DIAGNOSIS; DNA FLANKING REGION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXOME; EXON; FALSE POSITIVE RESULT; FATTY ACID OXIDATION; FOLLOW UP; GALACTOSEMIA; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC TRAIT; GENOMICS; GENOTYPE; HEALTH CARE COST; HETEROZYGOTE; HOMOCYSTINURIA; HUMAN; HUMAN GENOME; HYPERCHOLESTEROLEMIA; HYPERPHENYLALANINEMIA; INCIDENTAL FINDING; LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MAPLE SYRUP URINE DISEASE; MEDICAL ASSESSMENT; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METHYLMALONIC ACIDEMIA; NEWBORN DISEASE; NEWBORN SCREENING; PARKINSONISM; PHENOTYPE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; SICKLE CELL ANEMIA; TANDEM MASS SPECTROMETRY; TURNAROUND TIME;

EID: 84890857299     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.07.028     Document Type: Article

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